A reproducible bioinformatics pipeline for RNA-seq variant discovery, filtering, and functional annotation using GATK, bcftools, and snpEff. This workflow follows GATK best practices adapted for ...
Correspondence to Dr Radoslaw Marek Debiec, Cardiovascular Sciences, University of Leicester College of Medicine Biological Sciences and Psychology, Leicester LE3 9QP, UK; rmd24{at}le.ac.uk Aim The ...
Coronary artery disease (CAD), the leading cause of death worldwide, is influenced by both environmental and genetic factors. Although over 250 genetic risk loci have been identified through ...
Background: There are significant parallels between CC cell lines (CCCL) and newly diagnosed tumors, the most prominent being HPV infection/integrations and PI3K as well as epigenetic pathway ...
Infantile spasms (IS) are a clinically and genetically heterogeneous group of epileptic disorders characterized by clusters of brief contractions of the trunk and limb musculature in early infancy.
Comprehensive genomic profiling of urine DNA for urothelial carcinoma detection and risk prediction. The association of FDG PET/CT and NaF PET/CT with survival outcomes in patients (pts) with ...
Habitat fragmentation is sequestering species into small and isolated populations, with high chances of extinction. Are small and isolated populations at risk for extinction from inbreeding depression ...
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